Single base substitution and insertion/deletion mutational signatures in adult core binding factor acute myeloid leukemia

Paired diagnostic and remission samples from 20 adults with core binding factor acute myeloid leukemia (AML), comprising ten with t(8;21)(q22;q22) [RUNX1::RUNX1T1] and ten with inv(16)(p13q22)/t(16;16)(p13;q22) [CBFB::MYH11] analyzed by whole genome sequencing are included in this data set. All patients had de novo AML and the cases were selected based on the availability of good quality DNA from both diagnosis and remission. The median age of the patients was 51.5 years (range 19-74 years) and the female/male ratio was 1:1.5. the Declaration of Helsinki. DNA was extracted from diagnostic and remission bone marrow aspirates and sequencing libraries were constructed using the TruSeq PCR-Free DNA Library Preparation Kit (Illumina, San Diego, CA, USA) followed by cluster generation and 150 cycles paired-end sequencing with the NovaSeq 6000 system and v1.5 sequencing chemistry (Illumina) at the SNP&SEQ Technology Platform, Uppsala University. The data has been used for detection/investigation of single nucleotide variants, mutational signatures, fusion genes and copy number aberrations.

本数据集包含20名核心结合因子急性髓系白血病（AML）患者的诊断和缓解样本配对，其中10例携带t(8;21)(q22;q22) [RUNX1::RUNX1T1]易位，另外10例携带inv(16)(p13q22)/t(16;16)(p13;q22) [CBFB::MYH11]易位。这些样本通过全基因组测序进行分析。所有患者均为原发AML，病例选择基于诊断和缓解阶段高质量DNA的可用性。患者的中位年龄为51.5岁（范围19-74岁），男女比例为1:1.5。研究遵循赫尔辛基宣言。DNA从诊断和缓解阶段的骨髓穿刺液中提取，并使用TruSeq PCR-Free DNA Library Preparation Kit（Illumina，圣地亚哥，加利福尼亚州，美国）构建测序文库。随后，在Uppsala大学SNP&SEQ技术平台利用NovaSeq 6000系统及v1.5测序化学（Illumina）进行簇生成和150个循环的双端测序。数据已用于检测/研究单核苷酸变异、突变签名、融合基因和拷贝数异常。